logo
CanyamAI summaries for academic research
language
MobileMobile
  • Phone FeatureWeChat Mini Program
EnglishEnglish
noticeNotice
BlogBlog
delete
arrow
Back
A

Amy Gaviglio

connetics consulting llc

17H-index
62Paper Count
836Citation Count
Published Papers 33
Publication Date
logo
Mucopolysaccharidosis Type II Screening, Diagnosis, and Management: A Literature Review and Practical Recommendations for Newborn Screening Programs and Health Care Providers to Support Families and Improve Outcomes
errInternational Journal of Neonatal Screening
IF4
err2026-08-13
err0
errOAAI
errAmy Gaviglio; Natasha Bonhomme; Barbara Burton; Norman Matthew Ellinwood; Joseph Muenzer; Kim Stephens; Ravi Pathak; Carolyn Schaeffer-Koziol
errShare
errSave
ASSESSMENT OF TREC-BASED NBS SCID REPORTING PRACTICES FOR HARMONIZATION OF RESULTS AND INTERPRETATION: A GLOBAL SURVEY
errThe Journal of Allergy and Clinical Immunology: In Practice
IF6.6
err2026-03-11
err0
PREAI
errJahnavi Aluri; Amy Gaviglio; Isaac Kistler; Dianne Webster; Anne Pham-Huy; Monica G. Lawrence; Joyce E. Yu; Jovanka King; Muatasem Alsuweiti; Madara Auzenbaha; Tadej Avcin; Caner Aytekin; Marie Baekvad-Hansen; Yin-Hsiu Chien; Peter Ciznar; Anders Fasth; Elisabeth Förster-Waldl; Kimberly Gilmour; David Hagin; Kohsuke Imai
errShare
errSave
Beyond Detection: Comparing State-Based Newborn Screening Methods for Effective Mucopolysaccharidosis I Diagnosis
errInternational Journal of Neonatal Screening
IF4
err2026-03-04
err0
errOAAI
errRithika Thampy; Nishitha R. Pillai; Michael Evans; Chester B. Whitley; Paul J. Orchard; Matthew Ellinwood; Amy Gaviglio
errShare
errSave
Trends in the Timeliness of Spinal Muscular Atrophy Detection in US Infants, 2016-2023
errInternational Journal of Neonatal Screening
IF4
err2026-02-18
err0
errOAAI
errGrosse, Scott D.; Hong, Kai; Yazdanpanah, Golriz K.; Nash, Ashley; Gaviglio, Amy; Gaffney, Marcus; Lawrence, Kendra A. K.; Kwon, Jennifer M.
errShare
errSave
A Qualitative Study on Parental Experiences with Genetic Counseling After a Positive Newborn Screen for Recently Added Conditions on the Recommended Uniform Screening Panel (RUSP)
errInternational Journal of Neonatal Screening 2025, Vol. 11, Page 101
IF4
err2025-10-30
err0
errOAAI
errMacie Hricovec; Amy Gaviglio; Christina Mealwitz; Michelle Merrill; Aaron J. Goldenberg
errShare
errSave
Assessment of TREC-based NBS SCID reporting practices for harmonization of results and interpretation: a global survey
errJOURNAL OF IMMUNOLOGICAL METHODS
IF1.6
err2025-10-01
err0
PREAI
errAluri, Jahnavi; Kistler, Isaac; Gaviglio, Amy; Webster, Dianne; Taylor, Jennifer; Lawrence, Monica G.; Pham-Huy, Anne; Yu, Joyce E.; Kobrynski, Lisa; Heimall, Jennifer R.; Puck, Jennifer; Van Der Burg, Mirjam; Hauck, Fabian; Abraham, Roshini S.
errShare
errSave
ISNS General Guidelines for Neonatal Bloodspot Screening 2025
errInternational Journal of Neonatal Screening 2025, Vol. 11, Page 45
IF4
err2025-09-29
err0
errOAAI
errDianne Webster; Amy Gaviglio; Aysha Habib Khan; Mei Baker; David Cheillan; Layachi Chabraoui; Ghassan Abdoh; Juan Cabello; Roberto Giugliani; Dimitris Platis; Jan Østrup; R. Rodney Howell; Peter C. J. I. Schielen; James R. Bonham
errShare
errSave
Participatory Workflow Analysis of Newborn Genetic Screening (NBS) to Support Tools for Improved Follow-Up: Comparing the Use Case of Hemoglobinopathy Traits Across U.S. States
errInternational Journal of Neonatal Screening 2025, Vol. 11, Page 40
IF4
err2025-09-29
err0
errOAAI
errPeter Taber; Jennifer Baysinger; Sierra Daniels; Natalie Diaz-Kincaid; Amy Gaviglio; Jacob Ginter; Patrice K. Held; Emily Reeves; Virginia Sack; Jennifer Weaver; Karen Eilbeck
errShare
errSave
Newborn Screening—A Worldwide Endeavour to Protect
errInternational Journal of Neonatal Screening 2025, Vol. 11, Page 80
IF4
err2025-09-27
err0
errOAAI
errJames R. Bonham; Dianne Webster; Amy Gaviglio; Aysha Habib Khan; R. Rodney Howell; Peter C. J. I. Schielen
errShare
errSave
ISNS General Guidelines for Neonatal Bloodspot Screening 2025
errInternational Journal of Neonatal Screening 2025, Vol. 11, Page 45
IF4
err2025-08-21
err0
PREAI
errDianne Webster; Amy Gaviglio; Aysha Habib Khan; Mei Baker; David Cheillan; Layachi Chabraoui; Ghassan Abdoh; Juan Cabello; Roberto Giugliani; Dimitris Platis; Jan Østrup; R. Rodney Howell; Peter C. J. I. Schielen; James R. Bonham
errShare
errSave
Participatory Workflow Analysis of Newborn Genetic Screening (NBS) to Support Tools for Improved Follow-Up: Comparing the Use Case of Hemoglobinopathy Traits Across U.S. States
errInternational Journal of Neonatal Screening 2025, Vol. 11, Page 40
IF4
err2025-08-21
err0
PREAI
errPeter Taber; Jennifer Baysinger; Sierra Daniels; Natalie Diaz-Kincaid; Amy Gaviglio; Jacob Ginter; Patrice K. Held; Emily Reeves; Virginia Sack; Jennifer Weaver; Karen Eilbeck
errShare
errSave
Beyond newborn screening: the role of reverse cascade testing in familial disease detection
errCritical Reviews in Clinical Laboratory Sciences
IF5.5
err2025-07-17
err0
PREAI
errAmy Gaviglio; Kostantinos Petritis; Veronica Tagi; Alessandra Vasco; Alessia Mauri; Gianvincenzo Zuccotti; Elvira Verduci; Cristina Cereda; Simona Ferraro
errShare
errSave
Hospital administrators as forgotten partners in rare disease care: a call to action by the international hospital federation's global rare pediatric disease network
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2024-12-04
err0
errOAAI
errStoesz, Andrea; Joers, Barbara; Gaviglio, Amy
errShare
errSave
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States
errCYTOTHERAPY
IF3.2
err2024-07-01
err7
PREAI
errAdang, Laura A.; Bonkowsky, Joshua L.; Boelens, Jaap Jan; Mallack, Eric; Ahrens-Nicklas, Rebecca; Bernat, John A.; Bley, Annette; Burton, Barbara; Darling, Alejandra; Eichler, Florian; Eklund, Erik; Emrick, Lisa; Escolar, Maria; Fatemi, Ali; Fraser, Jamie L.; Gaviglio, Amy; Keller, Stephanie; Patterson, Marc C.; Orchard, Paul; Orthmann-Murphy, Jennifer; Santoro, Jonathan D.; Schoels, Ludger; Sevin, Caroline; Srivastava, Isha N.; Rajan, Deepa; Rubin, Jennifer P.; Van Haren, Keith; Wasserstein, Melissa; Zerem, Ayelet; Fumagalli, Francesca; Laugwitz, Lucia; Vanderver, Adeline
errShare
errSave
Can Incorporating Molecular Testing Improve the Accuracy of Newborn Screening for Congenital Adrenal Hyperplasia?
errJOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
IF5.1
err2024-05-03
err0
errOAAI
errSarafoglou, Kyriakie; Gaviglio, Amy; Wolf, Carrie; Lorentz, Cindy P.; Lteif, Aida; Kyllo, Jennifer; Radloff, Gretchen; Detwiler, Zachary; Cuthbert, Carla D.; Hodges, James S.; Grosse, Scott D.; Greene, Christopher N.; Cordovado, Suzanne
errShare
errSave
It's time to reconsider the newborn screening RUSP prospective pilot study N of 1 rule
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-05-01
err0
PREAI
errGelb, Michael H.; Matern, Dietrich; Ellinwood, Matthew; Gaviglio, Amy
errShare
errSave
Genetics providers' view on trauma-informed care in genetics clinics
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-04-01
err0
PREAI
errSchwoerer, Jessica Scott; Gaviglio, Amy; Sala-Hamrick, Kelsey; Justice, Kaitlin; Stone, Loan; Edick, Mathew
errShare
errSave
Newborn Screening for Severe Combined Immunodeficiency: Lessons Learned from Screening and Follow-Up of the Preterm Newborn Population
errINTERNATIONAL JOURNAL OF NEONATAL SCREENING
IF4
err2023-12-15
err4
errOAAI
errGaviglio, Amy; Lasarev, Michael; Sheller, Ruthanne; Singh, Sikha; Baker, Mei
errShare
errSave
Progress in expanding newborn screening in the United States
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2023-06-01
err1
errOAAI
errGrosse, Scott D.; Cuthbert, Carla; Gaffney, Marcus; Gaviglio, Amy; Hinton, Cynthia F.; Kellar-Guenther, Yvonne; Kemper, Alex R.; McKasson, Sarah; Ojodu, Jelili; Riley, Catharine; Singh, Sikha; Sontag, Marci K.; Shapira, Stuart K.
errShare
errSave
Infants with Congenital Diseases Identified through Newborn Screening-United States, 2018-2020
errINTERNATIONAL JOURNAL OF NEONATAL SCREENING
IF4
err2023-04-13
err6
errOAAI
errGaviglio, Amy; McKasson, Sarah; Singh, Sikha; Ojodu, Jelili
errShare
errSave

Research Directions

No research directions
Co-authors
Cooperation Journals
M
Michael H. Gelb
H-index: 105 · Papers: 828
J
Jennifer M. Puck
H-index: 100 · Papers: 449
L
Lüdger Schöls
H-index: 98 · Papers: 1.0K
R
Roberto Giugliani
H-index: 80 · Papers: 1.4K
W
William Thomas
H-index: 77 · Papers: 298
View more